Article
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Journal of medical genetics - 1 Apr 2017
Miller Kerry A, Twigg Stephen R F, McGowan Simon J, Phipps Julie M, Fenwick Aimée L, Johnson David, Wall Steven A, Noons Peter, Rees Katie E M, Tidey Elizabeth A, Craft Judith, Taylor John, Taylor Jenny C, Goos Jacqueline A C, Swagemakers Sigrid M A, Mathijssen Irene M J, van der Spek Peter J, Lord Helen, Lester Tracy, Abid Noina, Cilliers Deirdre, Hurst Jane A, Morton Jenny E V, Sweeney Elizabeth, Weber Astrid, Wilson Louise C, Wilkie Andrew O M
Abstract excerpt
BACKGROUND: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. METHODS: We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.